A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649388



Internal ID21597693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74965214..74965214hg38UCSC Ensembl
chr17:72961309..72961309hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17086422
SamplesHG00731
Known GenesHID1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649388
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer